C6orf25
- Known as:
- C6orf25
- Catalog number:
- 003145A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- C6orf25
Related genes to: C6orf25
- Gene:
- MPIG6B NIH gene
- Name:
- megakaryocyte and platelet inhibitory receptor G6b
- Previous symbol:
- C6orf25
- Synonyms:
- G6b, NG31, G6b-B
- Chromosome:
- 6p21.33
- Locus Type:
- gene with protein product
- Date approved:
- 2002-04-05
- Date modifiied:
- 2019-04-23
Related products to: C6orf25
Related articles to: C6orf25
- Mutations in the gene coding G6b-B, Mpig6b in mice, and MPIG6B in humans lead to myelofibrosis, progressive splenomegaly and osteosclerosis. Aberrant megakaryocyte function in bone marrow and spleen may affect bone cells through cell-cell contact or soluble factors. We aimed to assess the role of circulating factors produced by splenic cells in mediating osteosclerosis in Mpig6b mice using splenectomy, a procedure commonly used in clinics. Splenectomy or sham surgery was performed on 32-week-old female Mpig6b and littermate wildtype (WT) mice, when splenomegaly and long bone osteosclerosis were established. Twenty weeks later, the hematopoietic parameters and bone structure of the femur and lumbar vertebra were analyzed. Splenectomy significantly improved platelet count, but the larger platelet size persisted in Mpig6bmice. The Mpig6b femurs with established osteosclerosis were not affected by splenectomy. In contrast, splenectomy prevented the development of osteosclerosis in vertebrae of Mpig6b mice. Significant vertebral bone loss and increased circulating TRACP 5b were demonstrated in splenectomized Mpig6b mice compared to sham-operated and WT mice. Using quantitative plasma proteomics, we identified intercellular adhesion molecule 2 (ICAM2) as significantly increased in Mpig6b mice compared to WT and reversed to normal levels after splenectomy. The interaction of membrane-bound ICAM2 and MAC1 was reported to be critical for osteoclast fusion. Our in vitro study revealed that soluble recombinant ICAM2 dose-dependently inhibited osteoclast fusion, suggesting that competitive binding of MAC1 with soluble ICAM2 prevented its interaction with membrane-bound ICAM2. Thus, we identified the soluble ICAM2 as a novel inhibitor of osteoclast fusion and mediator of osteosclerosis in Mpig6b mice. - Source: PubMed
Publication date: 2026/09/20
Aksornthong SirionTiedemann KerstinWelman MélanieMazharian AlexandraLordkipanidzé MarieSenis Yotis AKomarova Svetlana V - - Source: PubMed
Publication date: 2026/07/31
Kılınç Oktay BurcuDurmaz BurakÇınar Özel SimgeOcak SüheylaTiraje Celkan Tülin - Congenital myelofibrosis (cMF) is a rare inherited bone marrow failure disorder. We report a 26-year-old Chinese male with a 24-year history of recurrent epistaxis and thrombocytopenia. Laboratory findings revealed severe thrombocytopenia (18 × 10⁹/L) and bone marrow biopsy showed MF-3 fibrosis with impaired megakaryopoiesis. Genetic analysis identified a novel homozygous nonsense mutation in MPIG6B (c.420T > A, p.Y140X), leading to a diagnosis of cMF. This case expands the clinical spectrum of MPIG6B-related disorders and illustrates the long-term natural history in a non-consanguineous population. The patient achieved clinical stability with eltrombopag and danazol. - Source: PubMed
Publication date: 2026/03/16
Wang XinXue FengZhang LeiYang Renchi - The megakaryocytic (MK)-specific immunoreceptor G6b-B plays an essential role in MK development. Because germ line loss-of-function mutations of G6b-B in humans and its deletion in mouse models lead to thrombocytopenia and a myelofibrosis-like clinical phenotype (MF-MPIG6B), we explored the role of G6b-B in patients with myelofibrosis (MF) due to a myeloproliferative neoplasm (MPN) with thrombocytopenia (MPN-MF-T). We demonstrated that MKs generated from mononuclear cells (MNCs) from a patient with MF-MPIG6B as well as patients with MPN-MF-T failed to express GATA binding protein 1 and G6B and possessed a protein pattern expression characteristic of MKs primed for inflammation rather than platelet production. MNCs from patients with MPN-MF-T also generated fewer MK-biased hematopoietic stem cells and greater numbers of small cytoplasmic immature MKs (CD41+CD42-G6B-) as compared with MNCs from patients with nonthrombocytopenic MPN-MF (MPN-MF-NT). Plasma levels of transforming growth factor β1 (TGFβ1) and chitinase-3-like protein (CHI3L1) also known as YKL-40, which were shown to arrest normal MK maturation, were elevated in the patients with MF-MPIG6B. Although TGFβ1 plasma levels were similarly elevated in patients with MPN-MF-T and MPN-MF-NT, tumor necrosis factor α (TNFα) and YKL-40 levels were upregulated to a greater extent in patients with MPN-MF-T than those with MPN-MF-NT. Moreover, we identified a reciprocal positive regulatory loop involving TGFβ1 and YKL-40 in MF MKs. These findings indicate that impaired MK maturation, and reduced G6B expression lead to the predominance of proinflammatory MKs, which produce factors that further arrest MK development in patients with MF-MPIG6B and MPN-MF-T patients. This trial was registered at www.clinicaltrials.gov as #NCT03895112. - Source: PubMed
Varricchio LilianMosoyan GoharElghaity-Beckley SebastianMia Md BabuHanda ShivaniSalib ChristianMascarenhas JohnHoffman Ronald - - Source: PubMed
Wang YTong LZhao QZhou L NMeng YDou Y